Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.118503552G>A | CA382806378 | KMT2A | c.7759G>A (p.Glu2587Lys) c.7750G>A (p.Glu2584Lys) c.1699G>A (p.Glu567Lys) c.1957G>A (p.Glu653Lys) c.7732G>A (p.Glu2578Lys) c.7651G>A (p.Glu2551Lys) n.7002G>A c.7660G>A (p.Glu2554Lys) c.7537G>A (p.Glu2513Lys) n.1787G>A c.5143G>A (p.Glu1715Lys) c.7756G>A (p.Glu2586Lys) c.5566G>A (p.Glu1856Lys) c.5242G>A (p.Glu1748Lys) | |
11 | g.118503552G>C | CA382806380 | KMT2A | c.7759G>C (p.Glu2587Gln) c.7750G>C (p.Glu2584Gln) c.1699G>C (p.Glu567Gln) c.1957G>C (p.Glu653Gln) c.7732G>C (p.Glu2578Gln) c.7651G>C (p.Glu2551Gln) n.7002G>C c.7660G>C (p.Glu2554Gln) c.7537G>C (p.Glu2513Gln) n.1787G>C c.5143G>C (p.Glu1715Gln) c.7756G>C (p.Glu2586Gln) c.5566G>C (p.Glu1856Gln) c.5242G>C (p.Glu1748Gln) | |
11 | g.118503552G>T | CA382806381 | KMT2A | c.7759G>T (p.Glu2587Ter) c.7750G>T (p.Glu2584Ter) c.1699G>T (p.Glu567Ter) c.1957G>T (p.Glu653Ter) c.7732G>T (p.Glu2578Ter) c.7651G>T (p.Glu2551Ter) n.7002G>T c.7660G>T (p.Glu2554Ter) c.7537G>T (p.Glu2513Ter) n.1787G>T c.5143G>T (p.Glu1715Ter) c.7756G>T (p.Glu2586Ter) c.5566G>T (p.Glu1856Ter) c.5242G>T (p.Glu1748Ter) | |
11 | g.118503553A>C | CA382806383 | KMT2A | c.7760A>C (p.Glu2587Ala) c.7751A>C (p.Glu2584Ala) c.1700A>C (p.Glu567Ala) c.1958A>C (p.Glu653Ala) c.7733A>C (p.Glu2578Ala) c.7652A>C (p.Glu2551Ala) n.7003A>C c.7661A>C (p.Glu2554Ala) c.7538A>C (p.Glu2513Ala) n.1788A>C c.5144A>C (p.Glu1715Ala) c.7757A>C (p.Glu2586Ala) c.5567A>C (p.Glu1856Ala) c.5243A>C (p.Glu1748Ala) | |
11 | g.118503553A>G | CA382806385 | KMT2A | c.7760A>G (p.Glu2587Gly) c.7751A>G (p.Glu2584Gly) c.1700A>G (p.Glu567Gly) c.1958A>G (p.Glu653Gly) c.7733A>G (p.Glu2578Gly) c.7652A>G (p.Glu2551Gly) n.7003A>G c.7661A>G (p.Glu2554Gly) c.7538A>G (p.Glu2513Gly) n.1788A>G c.5144A>G (p.Glu1715Gly) c.7757A>G (p.Glu2586Gly) c.5567A>G (p.Glu1856Gly) c.5243A>G (p.Glu1748Gly) | |
11 | g.118503553A>T | CA382806387 | KMT2A | c.7760A>T (p.Glu2587Val) c.7751A>T (p.Glu2584Val) c.1700A>T (p.Glu567Val) c.1958A>T (p.Glu653Val) c.7733A>T (p.Glu2578Val) c.7652A>T (p.Glu2551Val) n.7003A>T c.7661A>T (p.Glu2554Val) c.7538A>T (p.Glu2513Val) n.1788A>T c.5144A>T (p.Glu1715Val) c.7757A>T (p.Glu2586Val) c.5567A>T (p.Glu1856Val) c.5243A>T (p.Glu1748Val) | dbSNP |
11 | g.118503554G>A | CA477359926 | KMT2A | c.7761G>A (p.Glu2587=) c.7752G>A (p.Glu2584=) c.1701G>A (p.Glu567=) c.1959G>A (p.Glu653=) c.7734G>A (p.Glu2578=) c.7653G>A (p.Glu2551=) n.7004G>A c.7662G>A (p.Glu2554=) c.7539G>A (p.Glu2513=) n.1789G>A c.5145G>A (p.Glu1715=) c.7758G>A (p.Glu2586=) c.5568G>A (p.Glu1856=) c.5244G>A (p.Glu1748=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.118503554G>C | CA382806390 | KMT2A | c.7761G>C (p.Glu2587Asp) c.7752G>C (p.Glu2584Asp) c.1701G>C (p.Glu567Asp) c.1959G>C (p.Glu653Asp) c.7734G>C (p.Glu2578Asp) c.7653G>C (p.Glu2551Asp) n.7004G>C c.7662G>C (p.Glu2554Asp) c.7539G>C (p.Glu2513Asp) n.1789G>C c.5145G>C (p.Glu1715Asp) c.7758G>C (p.Glu2586Asp) c.5568G>C (p.Glu1856Asp) c.5244G>C (p.Glu1748Asp) | dbSNP |
11 | g.118503554G= | CA2003528001 | KMT2A | c.7761G= (p.Glu2587=) c.7752G= (p.Glu2584=) c.1701G= (p.Glu567=) c.1959G= (p.Glu653=) c.7734G= (p.Glu2578=) c.7653G= (p.Glu2551=) n.7004G= c.7662G= (p.Glu2554=) c.7539G= (p.Glu2513=) n.1789G= c.5145G= (p.Glu1715=) c.7758G= (p.Glu2586=) c.5568G= (p.Glu1856=) c.5244G= (p.Glu1748=) | |
11 | g.118503554G>T | CA382806388 | KMT2A | c.7761G>T (p.Glu2587Asp) c.7752G>T (p.Glu2584Asp) c.1701G>T (p.Glu567Asp) c.1959G>T (p.Glu653Asp) c.7734G>T (p.Glu2578Asp) c.7653G>T (p.Glu2551Asp) n.7004G>T c.7662G>T (p.Glu2554Asp) c.7539G>T (p.Glu2513Asp) n.1789G>T c.5145G>T (p.Glu1715Asp) c.7758G>T (p.Glu2586Asp) c.5568G>T (p.Glu1856Asp) c.5244G>T (p.Glu1748Asp) | |
11 | g.118503555T>A | CA382806392 | KMT2A | c.7762T>A (p.Ser2588Thr) c.7753T>A (p.Ser2585Thr) c.1702T>A (p.Ser568Thr) c.1960T>A (p.Ser654Thr) c.7735T>A (p.Ser2579Thr) c.7654T>A (p.Ser2552Thr) n.7005T>A c.7663T>A (p.Ser2555Thr) c.7540T>A (p.Ser2514Thr) n.1790T>A c.5146T>A (p.Ser1716Thr) c.7759T>A (p.Ser2587Thr) c.5569T>A (p.Ser1857Thr) c.5245T>A (p.Ser1749Thr) | gnomAD v4 |
11 | g.118503555T>C | CA6304420 | KMT2A | c.7762T>C (p.Ser2588Pro) c.7753T>C (p.Ser2585Pro) c.1702T>C (p.Ser568Pro) c.1960T>C (p.Ser654Pro) c.7735T>C (p.Ser2579Pro) c.7654T>C (p.Ser2552Pro) n.7005T>C c.7663T>C (p.Ser2555Pro) c.7540T>C (p.Ser2514Pro) n.1790T>C c.5146T>C (p.Ser1716Pro) c.7759T>C (p.Ser2587Pro) c.5569T>C (p.Ser1857Pro) c.5245T>C (p.Ser1749Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.118503555T>G | CA382806393 | KMT2A | c.7762T>G (p.Ser2588Ala) c.7753T>G (p.Ser2585Ala) c.1702T>G (p.Ser568Ala) c.1960T>G (p.Ser654Ala) c.7735T>G (p.Ser2579Ala) c.7654T>G (p.Ser2552Ala) n.7005T>G c.7663T>G (p.Ser2555Ala) c.7540T>G (p.Ser2514Ala) n.1790T>G c.5146T>G (p.Ser1716Ala) c.7759T>G (p.Ser2587Ala) c.5569T>G (p.Ser1857Ala) c.5245T>G (p.Ser1749Ala) | |
11 | g.118503555T= | CA2003528005 | KMT2A | c.7762T= (p.Ser2588=) c.7753T= (p.Ser2585=) c.1702T= (p.Ser568=) c.1960T= (p.Ser654=) c.7735T= (p.Ser2579=) c.7654T= (p.Ser2552=) n.7005T= c.7663T= (p.Ser2555=) c.7540T= (p.Ser2514=) n.1790T= c.5146T= (p.Ser1716=) c.7759T= (p.Ser2587=) c.5569T= (p.Ser1857=) c.5245T= (p.Ser1749=) | |
11 | g.118503556C>A | CA382806397 | KMT2A | c.7763C>A (p.Ser2588Ter) c.7754C>A (p.Ser2585Ter) c.1703C>A (p.Ser568Ter) c.1961C>A (p.Ser654Ter) c.7736C>A (p.Ser2579Ter) c.7655C>A (p.Ser2552Ter) n.7006C>A c.7664C>A (p.Ser2555Ter) c.7541C>A (p.Ser2514Ter) n.1791C>A c.5147C>A (p.Ser1716Ter) c.7760C>A (p.Ser2587Ter) c.5570C>A (p.Ser1857Ter) c.5246C>A (p.Ser1749Ter) | dbSNP |
11 | g.118503556C>G | CA382806400 | KMT2A | c.7763C>G (p.Ser2588Ter) c.7754C>G (p.Ser2585Ter) c.1703C>G (p.Ser568Ter) c.1961C>G (p.Ser654Ter) c.7736C>G (p.Ser2579Ter) c.7655C>G (p.Ser2552Ter) n.7006C>G c.7664C>G (p.Ser2555Ter) c.7541C>G (p.Ser2514Ter) n.1791C>G c.5147C>G (p.Ser1716Ter) c.7760C>G (p.Ser2587Ter) c.5570C>G (p.Ser1857Ter) c.5246C>G (p.Ser1749Ter) | |
11 | g.118503556C>T | CA382806407 | KMT2A | c.7763C>T (p.Ser2588Leu) c.7754C>T (p.Ser2585Leu) c.1703C>T (p.Ser568Leu) c.1961C>T (p.Ser654Leu) c.7736C>T (p.Ser2579Leu) c.7655C>T (p.Ser2552Leu) n.7006C>T c.7664C>T (p.Ser2555Leu) c.7541C>T (p.Ser2514Leu) n.1791C>T c.5147C>T (p.Ser1716Leu) c.7760C>T (p.Ser2587Leu) c.5570C>T (p.Ser1857Leu) c.5246C>T (p.Ser1749Leu) | |
11 | g.118503557A>C | CA477359929 | KMT2A | c.7764A>C (p.Ser2588=) c.7755A>C (p.Ser2585=) c.1704A>C (p.Ser568=) c.1962A>C (p.Ser654=) c.7737A>C (p.Ser2579=) c.7656A>C (p.Ser2552=) n.7007A>C c.7665A>C (p.Ser2555=) c.7542A>C (p.Ser2514=) n.1792A>C c.5148A>C (p.Ser1716=) c.7761A>C (p.Ser2587=) c.5571A>C (p.Ser1857=) c.5247A>C (p.Ser1749=) | |
11 | g.118503557A>G | CA477359930 | KMT2A | c.7764A>G (p.Ser2588=) c.7755A>G (p.Ser2585=) c.1704A>G (p.Ser568=) c.1962A>G (p.Ser654=) c.7737A>G (p.Ser2579=) c.7656A>G (p.Ser2552=) n.7007A>G c.7665A>G (p.Ser2555=) c.7542A>G (p.Ser2514=) n.1792A>G c.5148A>G (p.Ser1716=) c.7761A>G (p.Ser2587=) c.5571A>G (p.Ser1857=) c.5247A>G (p.Ser1749=) | |
11 | g.118503557A>T | CA477359931 | KMT2A | c.7764A>T (p.Ser2588=) c.7755A>T (p.Ser2585=) c.1704A>T (p.Ser568=) c.1962A>T (p.Ser654=) c.7737A>T (p.Ser2579=) c.7656A>T (p.Ser2552=) n.7007A>T c.7665A>T (p.Ser2555=) c.7542A>T (p.Ser2514=) n.1792A>T c.5148A>T (p.Ser1716=) c.7761A>T (p.Ser2587=) c.5571A>T (p.Ser1857=) c.5247A>T (p.Ser1749=) | gnomAD v4 |
11 | g.118503558A= | CA2003528006 | KMT2A | c.7765A= (p.Thr2589=) c.7756A= (p.Thr2586=) c.1705A= (p.Thr569=) c.1963A= (p.Thr655=) c.7738A= (p.Thr2580=) c.7657A= (p.Thr2553=) n.7008A= c.7666A= (p.Thr2556=) c.7543A= (p.Thr2515=) n.1793A= c.5149A= (p.Thr1717=) c.7762A= (p.Thr2588=) c.5572A= (p.Thr1858=) c.5248A= (p.Thr1750=) | |
11 | g.118503558A>C | CA6304421 | KMT2A | c.7765A>C (p.Thr2589Pro) c.7756A>C (p.Thr2586Pro) c.1705A>C (p.Thr569Pro) c.1963A>C (p.Thr655Pro) c.7738A>C (p.Thr2580Pro) c.7657A>C (p.Thr2553Pro) n.7008A>C c.7666A>C (p.Thr2556Pro) c.7543A>C (p.Thr2515Pro) n.1793A>C c.5149A>C (p.Thr1717Pro) c.7762A>C (p.Thr2588Pro) c.5572A>C (p.Thr1858Pro) c.5248A>C (p.Thr1750Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.118503558A>G | CA382806409 | KMT2A | c.7765A>G (p.Thr2589Ala) c.7756A>G (p.Thr2586Ala) c.1705A>G (p.Thr569Ala) c.1963A>G (p.Thr655Ala) c.7738A>G (p.Thr2580Ala) c.7657A>G (p.Thr2553Ala) n.7008A>G c.7666A>G (p.Thr2556Ala) c.7543A>G (p.Thr2515Ala) n.1793A>G c.5149A>G (p.Thr1717Ala) c.7762A>G (p.Thr2588Ala) c.5572A>G (p.Thr1858Ala) c.5248A>G (p.Thr1750Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.118503558A>T | CA382806412 | KMT2A | c.7765A>T (p.Thr2589Ser) c.7756A>T (p.Thr2586Ser) c.1705A>T (p.Thr569Ser) c.1963A>T (p.Thr655Ser) c.7738A>T (p.Thr2580Ser) c.7657A>T (p.Thr2553Ser) n.7008A>T c.7666A>T (p.Thr2556Ser) c.7543A>T (p.Thr2515Ser) n.1793A>T c.5149A>T (p.Thr1717Ser) c.7762A>T (p.Thr2588Ser) c.5572A>T (p.Thr1858Ser) c.5248A>T (p.Thr1750Ser) | |
11 | g.118503559C>A | CA382806416 | KMT2A | c.7766C>A (p.Thr2589Lys) c.7757C>A (p.Thr2586Lys) c.1706C>A (p.Thr569Lys) c.1964C>A (p.Thr655Lys) c.7739C>A (p.Thr2580Lys) c.7658C>A (p.Thr2553Lys) n.7009C>A c.7667C>A (p.Thr2556Lys) c.7544C>A (p.Thr2515Lys) n.1794C>A c.5150C>A (p.Thr1717Lys) c.7763C>A (p.Thr2588Lys) c.5573C>A (p.Thr1858Lys) c.5249C>A (p.Thr1750Lys) | dbSNP |
11 | g.118503559C>G | CA382806418 | KMT2A | c.7766C>G (p.Thr2589Arg) c.7757C>G (p.Thr2586Arg) c.1706C>G (p.Thr569Arg) c.1964C>G (p.Thr655Arg) c.7739C>G (p.Thr2580Arg) c.7658C>G (p.Thr2553Arg) n.7009C>G c.7667C>G (p.Thr2556Arg) c.7544C>G (p.Thr2515Arg) n.1794C>G c.5150C>G (p.Thr1717Arg) c.7763C>G (p.Thr2588Arg) c.5573C>G (p.Thr1858Arg) c.5249C>G (p.Thr1750Arg) | |
11 | g.118503559C>T | CA382806420 | KMT2A | c.7766C>T (p.Thr2589Ile) c.7757C>T (p.Thr2586Ile) c.1706C>T (p.Thr569Ile) c.1964C>T (p.Thr655Ile) c.7739C>T (p.Thr2580Ile) c.7658C>T (p.Thr2553Ile) n.7009C>T c.7667C>T (p.Thr2556Ile) c.7544C>T (p.Thr2515Ile) n.1794C>T c.5150C>T (p.Thr1717Ile) c.7763C>T (p.Thr2588Ile) c.5573C>T (p.Thr1858Ile) c.5249C>T (p.Thr1750Ile) | dbSNP |
11 | g.118503560A= | CA2003528008 | KMT2A | c.7767A= (p.Thr2589=) c.7758A= (p.Thr2586=) c.1707A= (p.Thr569=) c.1965A= (p.Thr655=) c.7740A= (p.Thr2580=) c.7659A= (p.Thr2553=) n.7010A= c.7668A= (p.Thr2556=) c.7545A= (p.Thr2515=) n.1795A= c.5151A= (p.Thr1717=) c.7764A= (p.Thr2588=) c.5574A= (p.Thr1858=) c.5250A= (p.Thr1750=) | |
11 | g.118503560A>C | CA477359932 | KMT2A | c.7767A>C (p.Thr2589=) c.7758A>C (p.Thr2586=) c.1707A>C (p.Thr569=) c.1965A>C (p.Thr655=) c.7740A>C (p.Thr2580=) c.7659A>C (p.Thr2553=) n.7010A>C c.7668A>C (p.Thr2556=) c.7545A>C (p.Thr2515=) n.1795A>C c.5151A>C (p.Thr1717=) c.7764A>C (p.Thr2588=) c.5574A>C (p.Thr1858=) c.5250A>C (p.Thr1750=) | |
11 | g.118503560A>G | CA6304422 | KMT2A | c.7767A>G (p.Thr2589=) c.7758A>G (p.Thr2586=) c.1707A>G (p.Thr569=) c.1965A>G (p.Thr655=) c.7740A>G (p.Thr2580=) c.7659A>G (p.Thr2553=) n.7010A>G c.7668A>G (p.Thr2556=) c.7545A>G (p.Thr2515=) n.1795A>G c.5151A>G (p.Thr1717=) c.7764A>G (p.Thr2588=) c.5574A>G (p.Thr1858=) c.5250A>G (p.Thr1750=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.118503560A>T | CA477359933 | KMT2A | c.7767A>T (p.Thr2589=) c.7758A>T (p.Thr2586=) c.1707A>T (p.Thr569=) c.1965A>T (p.Thr655=) c.7740A>T (p.Thr2580=) c.7659A>T (p.Thr2553=) n.7010A>T c.7668A>T (p.Thr2556=) c.7545A>T (p.Thr2515=) n.1795A>T c.5151A>T (p.Thr1717=) c.7764A>T (p.Thr2588=) c.5574A>T (p.Thr1858=) c.5250A>T (p.Thr1750=) | |
11 | g.118503561T>A | CA382806431 | KMT2A | c.7768T>A (p.Ser2590Thr) c.7759T>A (p.Ser2587Thr) c.1708T>A (p.Ser570Thr) c.1966T>A (p.Ser656Thr) c.7741T>A (p.Ser2581Thr) c.7660T>A (p.Ser2554Thr) n.7011T>A c.7669T>A (p.Ser2557Thr) c.7546T>A (p.Ser2516Thr) n.1796T>A c.5152T>A (p.Ser1718Thr) c.7765T>A (p.Ser2589Thr) c.5575T>A (p.Ser1859Thr) c.5251T>A (p.Ser1751Thr) | |
11 | g.118503561T>C | CA382806433 | KMT2A | c.7768T>C (p.Ser2590Pro) c.7759T>C (p.Ser2587Pro) c.1708T>C (p.Ser570Pro) c.1966T>C (p.Ser656Pro) c.7741T>C (p.Ser2581Pro) c.7660T>C (p.Ser2554Pro) n.7011T>C c.7669T>C (p.Ser2557Pro) c.7546T>C (p.Ser2516Pro) n.1796T>C c.5152T>C (p.Ser1718Pro) c.7765T>C (p.Ser2589Pro) c.5575T>C (p.Ser1859Pro) c.5251T>C (p.Ser1751Pro) | |
11 | g.118503561T>G | CA382806435 | KMT2A | c.7768T>G (p.Ser2590Ala) c.7759T>G (p.Ser2587Ala) c.1708T>G (p.Ser570Ala) c.1966T>G (p.Ser656Ala) c.7741T>G (p.Ser2581Ala) c.7660T>G (p.Ser2554Ala) n.7011T>G c.7669T>G (p.Ser2557Ala) c.7546T>G (p.Ser2516Ala) n.1796T>G c.5152T>G (p.Ser1718Ala) c.7765T>G (p.Ser2589Ala) c.5575T>G (p.Ser1859Ala) c.5251T>G (p.Ser1751Ala) | |
11 | g.118503562C>A | CA382806451 | KMT2A | c.7769C>A (p.Ser2590Tyr) c.7760C>A (p.Ser2587Tyr) c.1709C>A (p.Ser570Tyr) c.1967C>A (p.Ser656Tyr) c.7742C>A (p.Ser2581Tyr) c.7661C>A (p.Ser2554Tyr) n.7012C>A c.7670C>A (p.Ser2557Tyr) c.7547C>A (p.Ser2516Tyr) n.1797C>A c.5153C>A (p.Ser1718Tyr) c.7766C>A (p.Ser2589Tyr) c.5576C>A (p.Ser1859Tyr) c.5252C>A (p.Ser1751Tyr) | |
11 | g.118503562C>G | CA382806465 | KMT2A | c.7769C>G (p.Ser2590Cys) c.7760C>G (p.Ser2587Cys) c.1709C>G (p.Ser570Cys) c.1967C>G (p.Ser656Cys) c.7742C>G (p.Ser2581Cys) c.7661C>G (p.Ser2554Cys) n.7012C>G c.7670C>G (p.Ser2557Cys) c.7547C>G (p.Ser2516Cys) n.1797C>G c.5153C>G (p.Ser1718Cys) c.7766C>G (p.Ser2589Cys) c.5576C>G (p.Ser1859Cys) c.5252C>G (p.Ser1751Cys) | |
11 | g.118503562C>T | CA382806454 | KMT2A | c.7769C>T (p.Ser2590Phe) c.7760C>T (p.Ser2587Phe) c.1709C>T (p.Ser570Phe) c.1967C>T (p.Ser656Phe) c.7742C>T (p.Ser2581Phe) c.7661C>T (p.Ser2554Phe) n.7012C>T c.7670C>T (p.Ser2557Phe) c.7547C>T (p.Ser2516Phe) n.1797C>T c.5153C>T (p.Ser1718Phe) c.7766C>T (p.Ser2589Phe) c.5576C>T (p.Ser1859Phe) c.5252C>T (p.Ser1751Phe) | dbSNP |
11 | g.118503563T>A | CA477359936 | KMT2A | c.7770T>A (p.Ser2590=) c.7761T>A (p.Ser2587=) c.1710T>A (p.Ser570=) c.1968T>A (p.Ser656=) c.7743T>A (p.Ser2581=) c.7662T>A (p.Ser2554=) n.7013T>A c.7671T>A (p.Ser2557=) c.7548T>A (p.Ser2516=) n.1798T>A c.5154T>A (p.Ser1718=) c.7767T>A (p.Ser2589=) c.5577T>A (p.Ser1859=) c.5253T>A (p.Ser1751=) | |
11 | g.118503563T>C | CA477359937 | KMT2A | c.7770T>C (p.Ser2590=) c.7761T>C (p.Ser2587=) c.1710T>C (p.Ser570=) c.1968T>C (p.Ser656=) c.7743T>C (p.Ser2581=) c.7662T>C (p.Ser2554=) n.7013T>C c.7671T>C (p.Ser2557=) c.7548T>C (p.Ser2516=) n.1798T>C c.5154T>C (p.Ser1718=) c.7767T>C (p.Ser2589=) c.5577T>C (p.Ser1859=) c.5253T>C (p.Ser1751=) | |
11 | g.118503563T>G | CA477359938 | KMT2A | c.7770T>G (p.Ser2590=) c.7761T>G (p.Ser2587=) c.1710T>G (p.Ser570=) c.1968T>G (p.Ser656=) c.7743T>G (p.Ser2581=) c.7662T>G (p.Ser2554=) n.7013T>G c.7671T>G (p.Ser2557=) c.7548T>G (p.Ser2516=) n.1798T>G c.5154T>G (p.Ser1718=) c.7767T>G (p.Ser2589=) c.5577T>G (p.Ser1859=) c.5253T>G (p.Ser1751=) | gnomAD v4 |
11 | g.118503564C>A | CA382806468 | KMT2A | c.7771C>A (p.Pro2591Thr) c.7762C>A (p.Pro2588Thr) c.1711C>A (p.Pro571Thr) c.1969C>A (p.Pro657Thr) c.7744C>A (p.Pro2582Thr) c.7663C>A (p.Pro2555Thr) n.7014C>A c.7672C>A (p.Pro2558Thr) c.7549C>A (p.Pro2517Thr) n.1799C>A c.5155C>A (p.Pro1719Thr) c.7768C>A (p.Pro2590Thr) c.5578C>A (p.Pro1860Thr) c.5254C>A (p.Pro1752Thr) | |
11 | g.118503564C= | CA2003528009 | KMT2A | c.7771C= (p.Pro2591=) c.7762C= (p.Pro2588=) c.1711C= (p.Pro571=) c.1969C= (p.Pro657=) c.7744C= (p.Pro2582=) c.7663C= (p.Pro2555=) n.7014C= c.7672C= (p.Pro2558=) c.7549C= (p.Pro2517=) n.1799C= c.5155C= (p.Pro1719=) c.7768C= (p.Pro2590=) c.5578C= (p.Pro1860=) c.5254C= (p.Pro1752=) | |
11 | g.118503564C>G | CA382806471 | KMT2A | c.7771C>G (p.Pro2591Ala) c.7762C>G (p.Pro2588Ala) c.1711C>G (p.Pro571Ala) c.1969C>G (p.Pro657Ala) c.7744C>G (p.Pro2582Ala) c.7663C>G (p.Pro2555Ala) n.7014C>G c.7672C>G (p.Pro2558Ala) c.7549C>G (p.Pro2517Ala) n.1799C>G c.5155C>G (p.Pro1719Ala) c.7768C>G (p.Pro2590Ala) c.5578C>G (p.Pro1860Ala) c.5254C>G (p.Pro1752Ala) | |
11 | g.118503564C>T | CA382806472 | KMT2A | c.7771C>T (p.Pro2591Ser) c.7762C>T (p.Pro2588Ser) c.1711C>T (p.Pro571Ser) c.1969C>T (p.Pro657Ser) c.7744C>T (p.Pro2582Ser) c.7663C>T (p.Pro2555Ser) n.7014C>T c.7672C>T (p.Pro2558Ser) c.7549C>T (p.Pro2517Ser) n.1799C>T c.5155C>T (p.Pro1719Ser) c.7768C>T (p.Pro2590Ser) c.5578C>T (p.Pro1860Ser) c.5254C>T (p.Pro1752Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.118503565C>A | CA382806476 | KMT2A | c.7772C>A (p.Pro2591His) c.7763C>A (p.Pro2588His) c.1712C>A (p.Pro571His) c.1970C>A (p.Pro657His) c.7745C>A (p.Pro2582His) c.7664C>A (p.Pro2555His) n.7015C>A c.7673C>A (p.Pro2558His) c.7550C>A (p.Pro2517His) c.5156C>A (p.Pro1719His) c.7769C>A (p.Pro2590His) c.5579C>A (p.Pro1860His) c.5255C>A (p.Pro1752His) | |
11 | g.118503565C= | CA2003528011 | KMT2A | c.7772C= (p.Pro2591=) c.7763C= (p.Pro2588=) c.1712C= (p.Pro571=) c.1970C= (p.Pro657=) c.7745C= (p.Pro2582=) c.7664C= (p.Pro2555=) n.7015C= c.7673C= (p.Pro2558=) c.7550C= (p.Pro2517=) c.5156C= (p.Pro1719=) c.7769C= (p.Pro2590=) c.5579C= (p.Pro1860=) c.5255C= (p.Pro1752=) | |
11 | g.118503565C>G | CA382806478 | KMT2A | c.7772C>G (p.Pro2591Arg) c.7763C>G (p.Pro2588Arg) c.1712C>G (p.Pro571Arg) c.1970C>G (p.Pro657Arg) c.7745C>G (p.Pro2582Arg) c.7664C>G (p.Pro2555Arg) n.7015C>G c.7673C>G (p.Pro2558Arg) c.7550C>G (p.Pro2517Arg) c.5156C>G (p.Pro1719Arg) c.7769C>G (p.Pro2590Arg) c.5579C>G (p.Pro1860Arg) c.5255C>G (p.Pro1752Arg) | |
11 | g.118503565C>T | CA382806481 | KMT2A | c.7772C>T (p.Pro2591Leu) c.7763C>T (p.Pro2588Leu) c.1712C>T (p.Pro571Leu) c.1970C>T (p.Pro657Leu) c.7745C>T (p.Pro2582Leu) c.7664C>T (p.Pro2555Leu) n.7015C>T c.7673C>T (p.Pro2558Leu) c.7550C>T (p.Pro2517Leu) c.5156C>T (p.Pro1719Leu) c.7769C>T (p.Pro2590Leu) c.5579C>T (p.Pro1860Leu) c.5255C>T (p.Pro1752Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.118503566C>A | CA477359944 | KMT2A | c.7773C>A (p.Pro2591=) c.7764C>A (p.Pro2588=) c.1713C>A (p.Pro571=) c.1971C>A (p.Pro657=) c.7746C>A (p.Pro2582=) c.7665C>A (p.Pro2555=) n.7016C>A c.7674C>A (p.Pro2558=) c.7551C>A (p.Pro2517=) c.5157C>A (p.Pro1719=) c.7770C>A (p.Pro2590=) c.5580C>A (p.Pro1860=) c.5256C>A (p.Pro1752=) | dbSNP |
11 | g.118503566C>G | CA477359946 | KMT2A | c.7773C>G (p.Pro2591=) c.7764C>G (p.Pro2588=) c.1713C>G (p.Pro571=) c.1971C>G (p.Pro657=) c.7746C>G (p.Pro2582=) c.7665C>G (p.Pro2555=) n.7016C>G c.7674C>G (p.Pro2558=) c.7551C>G (p.Pro2517=) c.5157C>G (p.Pro1719=) c.7770C>G (p.Pro2590=) c.5580C>G (p.Pro1860=) c.5256C>G (p.Pro1752=) |